The role of CD247 polymorphisms in Bulgarian patients with systemic lupus erythematosus

Decreased expression of the TCR ζ-chain has been reportedin several autoimmune and inflammatory diseases. Recent evidence suggeststhat this deficiency may be due to polymorphisms in the CD247gene. A total 52 patients with systemic lupus erythematosus (SLE) and95 healthy controls of Bulgarian ethnicity were genotyped for 837C&gt;G,rs1052230, 844A&gt;T, and rs1052231 using a TaqMan genotyping assay.None of the two polymorphisms appeared associated with the diseases.On the other hand, we have found that the -837GG genotype and the Gallele were associated with hematological disease. The -844AA genotypeand the A allele appeared associated with the hematological disease aswell. The -843AA genotype and the A allele were found to be associatedwith antinuclear antibody (ANA) tests and immunological disease. Anassociation was found between the -837G allele and arthritis. The AGhaplotype was found to be associated with hematological disease, ANA,and immunological disease. Our preliminary data confirm the previousfindings that the CD247 polymorphisms are mainly associated with theclinical outcome of the disease and less with susceptibility.</p

Inflammatory Myopathies with Cutaneous Involvement: from Diagnosis to Therapy

The group of idiopathic inflammatory myopathies (IIM) include various disorders of skeletal muscles with or without skin involvement. The most common types are dermatomyositis (DM), polymyositis (PM), inclusion body myositis (IBM) and necrotizing autoimmune myopathy (NAM). Dermatomyositis subdivides into various clinical forms such as juvenile, amyopathic or paraneoplastic dermatomyositis, scleromyositis, overlap or anti-synthetase syndromes, etc

Paraneoplastic dermatological manifestation of gastrointestinal malignancies

Numerous dermatological disorders have been associated with underlining malignancies of the gastrointestinal (GI) tract. Such cutaneous manifestations might have an important diagnostic value if they are the sole expressions of otherwise asymptomatic carcinomas. The recognition of some typical paraneoplastic dermatologic disorders can lead to the prompt diagnosis of the underlying malignancy, timely administration of therapy, and ultimately, better prognosis. In this review we discuss the most common paraneoplastic dermatological syndromes from the perspective of the practicing gastroenterologist. We also outline a comprehensive practical approach for the evaluation for occult malignancy in patients presenting with cutaneous findings potentially associated with GI cancers

Clinical variants, stages, and management of basal cell carcinoma

Basal cell carcinoma (BCC) is the most common paraneoplastic disease among human neoplasms. The tumor affects mainly photoexposed areas, most often in the head and seldom appears on genitalia and perigenital region. BCC progresses slowly and metastases are found in less than 0.5% of the cases; however, a considerable local destruction and mutilation could be observed when treatment is neglected or inadequate. Different variants as nodular, cystic, micronodular, superficial, pigment BCC are described in literature and the differential diagnosis in some cases could be difficult. The staging of BCC is made according to Tumor, Node, Metastasis (TNM) classification and is essential for performing the adequate treatment. Numerous therapeutic methods established for treatment of BCC, having their advantages or disadvantages, do not absolutely dissolve the risk of relapses. The early diagnostics based on the good knowledge and timely organized and adequate treatment is a precondition for better prognosis. Despite the slow progress and numerous therapeutic methods, the basal cell carcinoma should not be underestimated

Molecular Genetics of Kaposi's Sarcoma-Associated Herpesvirus (Human Herpesvirus 8) Epidemiology and Pathogenesis

Kaposi's sarcoma had been recognized as unique human cancer for a century before it manifested as an AIDS-defining illness with a suspected infectious etiology. The discovery of Kaposi's sarcoma-associated herpesvirus (KSHV), also known as human herpesvirus-8, in 1994 by using representational difference analysis, a subtractive method previously employed for cloning differences in human genomic DNA, was a fitting harbinger for the powerful bioinformatic approaches since employed to understand its pathogenesis in KS. Indeed, the discovery of KSHV was rapidly followed by publication of its complete sequence, which revealed that the virus had coopted a wide armamentarium of human genes; in the short time since then, the functions of many of these viral gene variants in cell growth control, signaling apoptosis, angiogenesis, and immunomodulation have been characterized. This critical literature review explores the pathogenic potential of these genes within the framework of current knowledge of the basic herpesvirology of KSHV, including the relationships between viral genotypic variation and the four clinicoepidemiologic forms of Kaposi's sarcoma, current viral detection methods and their utility, primary infection by KSHV, tissue culture and animal models of latent- and lytic-cycle gene expression and pathogenesis, and viral reactivation from latency. Recent advances in models of de novo endothelial infection, microarray analyses of the host response to infection, receptor identification, and cloning of full-length, infectious KSHV genomic DNA promise to reveal key molecular mechanisms of the candidate pathogeneic genes when expressed in the context of viral infection

Intravenous Immunoglobulins: Mode of Action and Indications in Autoimmune and Inflammatory Dermatoses

Intravenous immunoglobulins (IVIGs), a mixture of variable amounts of proteins (albumin, IgG, IgM, IgA, and IgE antibodies), as well as salt, sugar, solvents, and detergents, are successfully used to treat a variety of dermatological disorders. For decades, IVIGs have been administered for treatment of infectious diseases and immune deficiencies, since they contain natural antibodies that represent a first-line defense against pathogens. Today their indication has expanded, including the off-label therapy for a variety of autoimmune and inflammatory diseases. In dermatology, IVIGs are administered for treatment of different disorders at different therapeutic regimens, mostly with higher doses then those administered for treatment of infectious diseases. The aim of this prospective review is to highlight the indications, effectiveness, side effects, and perspectives of the systemic treatment with IVIGs for patients with severe, life-threatening, and resistant to conventional therapies autoimmune or inflammatory dermatoses

Review: Monoclonal Antibody Drugs for Systemic Lupus Erythematosus / Моноклональные Антитела При Лечении Системной Красной Волчанки

Системная красная волчанка (СКВ) является гетерогенным аутоиммунным заболеванием, в патогенезе которого принимают участие разные иммунные механизмы. За последние годы накопилось достаточно большое количество данных о применении иммунных препаратов, содержащих антитела против TNF- α, BlyS, CD20, CD22, IL-6R и комплимента в лечении СКВ, в которых независимо от сообщаемых хороших результатов отсутствуют категорические данные об их эффективности и безопасности. Данное обозрение стремится обобщить результаты в этой области и поискать перспективы новых, более эффективных терапевтических стратегий в лечении данного заболевания в комбинации с другими иммуномодулирующими препаратами

Genetically Determined TNF-α Secretion Influences the Development of Dermatomyositis and Systemic Lupus Erythematosus

Background: Abnormal secretion of TNF-α is known to play a role in the pathogenesis of dermatomyositis and systemic lupus erythematosus